临床基因组测序的次要发现：来自多中心研究的患病率、患者观点、家族史评估和医疗保健成本。

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

机构信息

Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.

Clinical Sequencing Exploratory Research Coordinating Center, University of Washington, Seattle, WA, USA.

出版信息

Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5.

DOI:10.1038/s41436-018-0308-x

PMID:30287922

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6450774/

Abstract

PURPOSE

Clinical sequencing emerging in health care may result in secondary findings (SFs).

METHODS

Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene-condition pair list; we assessed clinical and psychosocial actions.

RESULTS

The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0-$678) and $421 (recommended, range: $141-$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene-condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care.

CONCLUSION

Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.

摘要

目的

医疗保健中新兴的临床测序可能会产生次要发现（SFs）。

方法

通过临床测序探索研究（CSER）联盟对 6240 名参与者中的 74 名进行了基因组或外显子测序，他们从最初的美国医学遗传学和基因组学学院（ACMG）推荐的 56 个基因-病症对列表中获得了一个或多个 SFs；我们评估了临床和心理社会行动。

结果

在 CSER 联盟中，ACMG 56 个基因的总体调整后的 SFs 患病率为 1.7%。最初 32%的家族史呈阳性，披露后增加到 48%。在 1 年的随访期间，每个发现的医疗后续行动的平均费用为 128 美元（观察到的，范围为 0-678 美元）和 421 美元（推荐的，范围为 141-1114 美元）。病例报告揭示了与每个 SF 基因-病症对相关的医疗建议的频率和后续行动的差异。参与者没有报告因收到 SFs 而产生的不良心理社会影响；这得到了 18 名参与者（或家长）访谈的证实。所有接受采访的参与者都与亲属分享了发现，并报告说亲属没有进行额外的测试或治疗。